autosomal recessive congenital ichthyosis 11

Autosomal Recessive Congenital Ichthyosis (ARCI) 11, also known as Sjögren-Larsson syndrome, is a rare genetic disorder that affects the skin and nervous system.

Key Features:

• Skin Scaling: The main symptom of ARCI 11 is abnormal skin scaling over the body, which can range from mild to severe.
• Hypotrichosis: Affected individuals often have sparse or thinning hair on their head and body.
• Photophobia: People with this condition may experience sensitivity to light, which can cause discomfort and pain.
• Corneal Opacity: In some cases, the cornea of the eye becomes cloudy or opaque, leading to vision problems.
• Blepharitis: Inflammation of the eyelids is also a common feature.

Other Symptoms:

• Ichthyosis (dry, scaly skin)
• Hypotrichosis (sparse or thinning hair)
• Photophobia (sensitivity to light)
• Corneal opacity (cloudy cornea)
• Blepharitis (inflammation of the eyelids)

Causes and Inheritance:

ARCI 11 is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. The genetic mutation affects the keratinization process in the skin.

References:

• [3] defines ARCI as a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis.
• [4] refers to ARCI 11 as a group of skin disorders characterized by abnormal skin scaling over the body.
• [8] describes ARCI 11 as an autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, and other symptoms.

Note: The above information is based on the search results provided in the context.

Signs and Symptoms of Autosomal Recessive Congenital Ichthyosis (ARCI)

Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder characterized by severe scaling of the skin. The signs and symptoms of ARCI can vary in severity, but they often include:

• Generalized scaling: Thick, dry scales cover most of the body, including the face, arms, legs, palms, and soles.
• Palmoplantar keratoderma: The palms and soles are often severely thickened, with painful fissures and digital contractures.
• Ectropion and eclabium: The eyelids may turn outward (ectropion) or inward (eclabium), leading to exposure of the conjunctiva.
• Scalp involvement: The scalp may be affected, leading to hair loss (alopecia).
• Loss of eyebrows and lashes: Many individuals with ARCI experience loss of their eyebrows and eyelashes.
• Decreased ability to sweat: Individuals with ARCI often have a decreased ability to sweat, making them sensitive to heat.
• Abnormal finger and toenails: The fingernails and toenails may be abnormally formed (nail dystrophy).
• Giant scales: Large, thick scales cover most of the body.

These symptoms can vary in severity and may be accompanied by other complications. It's essential to consult a medical professional for an accurate diagnosis and treatment plan.

References:

[3] HI or harlequin fetus is a severe and usually fatal form of ichthyosis. The children are usually premature with extensive shiny hyperkeratotic plaques, [1] Abnormality of head or neck Sparse eyebrow · Abnormality of the eye. Corneal opacity · Abnormality of the immune system. Blepharitis. [4] Palms and soles are often severely thickened (palmoplantar keratoderma), with painful fissures and digital contractures. Ectropion, eclabium, ... [5] Symptoms · Giant scales that cover most of the body · Decreased ability to sweat, causing sensitivity to heat · Hair loss · Abnormal finger and toenails · Skin of ... [7] Affected individuals may also have hair loss (alopecia), abnormally formed fingernails and toenails (nail dystrophy), a decreased ability to ...

Autosomal Recessive Congenital Ichthyosis (ARCI) is a rare genetic disorder characterized by abnormal skin scaling over the whole body due to a defect in keratinization. Diagnostic tests for ARCI are crucial for accurate diagnosis and management of the condition.

Diagnostic Tests:

• Genetic Testing: Genetic testing is the diagnostic test of choice for ARCI. A multigene panel that includes the genes associated with ARCI, such as TGM1, ALOXE3, ALOX12B, NIPAL4, and CYP, should be performed (2, 9).
• Next-Generation Sequencing (NGS): NGS is a genetic testing method that can detect mutations in multiple genes simultaneously. It is ideal for patients with a clinical suspicion of congenital ichthyosis or lamellar ichthyosis (7).
• Clinical Molecular Genetics Test: A Clinical Molecular Genetics test, such as the one offered by HNL Genomics, can also be used to diagnose ARCI (1).

Other Diagnostic Tests:

• Physical Examination: A thorough physical examination is essential for diagnosing ARCI. The condition is characterized by abnormal skin scaling over the whole body.
• Medical History: A detailed medical history should be taken to rule out other conditions that may present with similar symptoms.

References:

1. HNL Genomics Connective Tissue Gene Tests (2018)
2. Diociaiuti A, El Hachem M, Pisaneschi E, et al. Diagnostic approach of ichthyosis. Orphanet J Rare Dis. 2016;11:4.
3. Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, et al. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet. 2009;46:103–11.
4. PreventionGenetics (2022)
5. Exact Sciences (2022)

Note: The references provided are a selection of relevant studies and resources that support the diagnostic tests mentioned above.

Based on the available information, it appears that there are no approved treatments for autosomal recessive congenital ichthyosis (ARCI) type 11.

• Currently, there are no FDA-approved treatments for ARCI type 11 [4].
• Since there are no approved treatments for any ichthyosis type, work to validate the use of topical retinoids, biologics, and anti-inflammatory agents is ongoing [7].
• Promising developments have been made in pathogenesis-based therapies, such as enzyme replacement therapy and gene therapy, but these are not specifically mentioned for ARCI type 11 [5].

However, some alternative treatments that may be considered include:

• Topical petrolatum-based creams and ointments to keep the skin soft and hydrated [3].
• Enteral administration of retinoids, which offers a potential treatment option due to its ease of application and cost [1].
• Retinoic acid metabolism blocking agents, which increase the endogenous levels of retinoic acid, may be an alternative to systemic retinoid treatment [8].

It's worth noting that these treatments are not specifically approved for ARCI type 11, and more research is needed to determine their effectiveness.

References: [1] by SI Peña-Corona · 2023 [3] [4] Jun 27, 2023 [5] by MDW Joosten · 2022 [7] by E Lilly · 2023 [8] by L Rodríguez-Pazos · 2013

Differential Diagnosis of Autosomal Recessive Congenital Ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a rare disorder that can be challenging to diagnose. The differential diagnosis for ARCI includes several other conditions that present with similar symptoms.

• Ichthyosis Vulgaris: This is the most common form of ichthyosis, characterized by dry, scaly skin on the arms and legs. It is often inherited in an autosomal dominant pattern.
• Recessive X-linked Ichthyosis: This condition is caused by mutations in the STS gene and is characterized by scaling skin on the trunk and limbs.
• Semidominant Ichthyosis Vulgaris: This form of ichthyosis is similar to ichthyosis vulgaris but with a more severe presentation.
• CIE (Congenital Ichthyosiform Erythroderma): This condition presents with generalized scaling skin and erythema, often associated with other systemic symptoms.

Key Points

• ARCI can be difficult to diagnose due to its rarity and similarity in presentation to other conditions.
• Differential diagnosis includes ichthyosis vulgaris, recessive X-linked ichthyosis, semidominant ichthyosis vulgaris, and CIE.
• Accurate diagnosis requires a comprehensive evaluation of clinical features, family history, and genetic testing.

References

• [5] - Differential diagnosis includes syndromic forms of ichthyosis, recessive X-linked ichthyosis and semidominant ichthyosis vulgaris, and CIE in case of ...
• [8] - Differential diagnosis includes ichthyosis vulgaris, autosomal recessive congenital ichthyosis (ARCI), namely lamellar ichthyosis, syndromic RLXI, or multiple ...